chr11:2587630:C>T Detail (hg38) (KCNQ1)

Information

Genome

Assembly Position
hg19 chr11:2,608,860-2,608,860 View the variant detail on this assembly version.
hg38 chr11:2,587,630-2,587,630

HGVS

Type Transcript Protein
RefSeq NM_000218.2:c.1189C>T NP_000209.2:p.Arg397Trp
NM_181798.1:c.808C>T NP_861463.1:p.Arg270Trp
Ensemble ENST00000155840.12:c.1189C>T ENST00000155840.12:p.Arg397Trp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 607542 OMIM
HGNC 6294 HGNC
Ensembl ENSG00000053918 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv41369592 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2016-06-14 criteria provided, single submitter Congenital long QT syndrome germline Detail
Conflicting interpretations of pathogenicity 2024-02-05 criteria provided, conflicting interpretations long QT syndrome germline paternal Detail
Uncertain significance 2022-10-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Conflicting interpretations of pathogenicity 2023-09-04 criteria provided, conflicting interpretations long QT syndrome 1 germline unknown Detail
Uncertain significance 2016-06-14 criteria provided, single submitter Jervell and Lange-Nielsen syndrome germline Detail
Uncertain significance 2016-06-14 criteria provided, single submitter familial atrial fibrillation germline Detail
Uncertain significance 2024-03-12 criteria provided, single submitter germline Detail
Likely pathogenic 2017-07-14 no assertion criteria provided Wolff-Parkinson-White pattern unknown Detail
Uncertain significance 2023-05-26 criteria provided, multiple submitters, no conflicts not specified germline Detail
Uncertain significance 2024-01-17 criteria provided, single submitter Cardiac arrhythmia germline Detail
Uncertain significance 2020-06-19 criteria provided, single submitter Jervell and Lange-Nielsen syndrome 1,long QT syndrome 1,Short QT syndrome type 2,Atrial fibrillation, familial, 3 germline Detail
Uncertain significance 2020-06-19 criteria provided, single submitter Jervell and Lange-Nielsen syndrome 1,long QT syndrome 1,Short QT syndrome type 2,Atrial fibrillation, familial, 3 germline Detail
Uncertain significance 2020-06-19 criteria provided, single submitter Jervell and Lange-Nielsen syndrome 1,long QT syndrome 1,Short QT syndrome type 2,Atrial fibrillation, familial, 3 germline Detail
Uncertain significance 2020-06-19 criteria provided, single submitter Jervell and Lange-Nielsen syndrome 1,long QT syndrome 1,Short QT syndrome type 2,Atrial fibrillation, familial, 3 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.417 long QT syndrome NA CLINVAR Detail
0.417 long QT syndrome Both KV7.1-A283T (16-week male) and KV7.1-R397W (16-week female) mutations were ... BeFree 23571586 Detail
0.133 Congenital long QT syndrome NA CLINVAR Detail
0.573 Romano-Ward Syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) AND Congenital long QT syndrome ClinVar Detail
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) AND Long QT syndrome ClinVar Detail
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) AND not provided ClinVar Detail
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) AND Long QT syndrome 1 ClinVar Detail
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) AND Jervell and Lange-Nielsen syndrome ClinVar Detail
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) AND Familial atrial fibrillation ClinVar Detail
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) AND Cardiovascular phenotype ClinVar Detail
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) AND Wolff-Parkinson-White pattern ClinVar Detail
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) AND not specified ClinVar Detail
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) AND Cardiac arrhythmia ClinVar Detail
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) AND multiple conditions ClinVar Detail
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) AND multiple conditions ClinVar Detail
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) AND multiple conditions ClinVar Detail
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) AND multiple conditions ClinVar Detail
NA DisGeNET Detail
Both KV7.1-A283T (16-week male) and KV7.1-R397W (16-week female) mutations were associated with mark... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs199472776 dbSNP
Genome
hg38
Position
chr11:2,587,630-2,587,630
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8632
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121184
Allele Counts in All Race (ExAC)
20
Heterozygous Counts in All Race (ExAC)
20
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6503828888302086E-4
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